ClinVar Miner

Submissions for variant NM_000260.4(MYO7A):c.1854G>A (p.Leu618=) (rs35429535)

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Total submissions: 7
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Laboratory for Molecular Medicine, Partners HealthCare Personalized Medicine RCV000036065 SCV000059717 benign not specified 2011-12-21 criteria provided, single submitter clinical testing Leu618Leu in exon 16 of MYO7A: This variant is not expected to have clinical sig nificance because it does not alter an amino acid residue, is not located within the splice consensus sequence and has been identified in 0.4% (28/6652) of chro mosomes from a broad, though clinically unspecified European American population and 0.1% (5/3382) of chromosomes from a broad, though clinically unspecified Af rican American population (dbSNP rs35429535).
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics RCV000036065 SCV000226411 likely benign not specified 2014-12-14 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000324225 SCV000374261 likely benign Retinitis pigmentosa-deafness syndrome 2016-06-14 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000378842 SCV000374262 likely benign Nonsyndromic Hearing Loss, Dominant 2016-06-14 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000265173 SCV000374263 likely benign Nonsyndromic Hearing Loss, Recessive 2016-06-14 criteria provided, single submitter clinical testing
GeneDx RCV000036065 SCV000729222 likely benign not specified 2017-12-20 criteria provided, single submitter clinical testing This variant is considered likely benign or benign based on one or more of the following criteria: it is a conservative change, it occurs at a poorly conserved position in the protein, it is predicted to be benign by multiple in silico algorithms, and/or has population frequency not consistent with disease.
Invitae RCV000882335 SCV001025568 benign not provided 2019-03-04 criteria provided, single submitter clinical testing

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