ClinVar Miner

Submissions for variant NM_000260.4(MYO7A):c.4620G>A (p.Ala1540=) (rs41298745)

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Total submissions: 6
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Laboratory for Molecular Medicine, Partners HealthCare Personalized Medicine RCV000036156 SCV000059808 benign not specified 2015-07-05 criteria provided, single submitter clinical testing Ala1540Ala in Exon 35 of MYO7A: This variant is not expected to have clinical s ignificance because it does not alter an amino acid residue, it is not located w ithin the splice consensus sequence, and it has been observed in 1.9% (78/4130) of South Asian chromosomes by the Exome Aggregation Consortium (ExAC, http://exa c.broadinstitute.org; dbSNP rs41298745).
Illumina Clinical Services Laboratory,Illumina RCV000263890 SCV000374383 likely benign Nonsyndromic Hearing Loss, Dominant 2016-06-14 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000319034 SCV000374384 likely benign Nonsyndromic Hearing Loss, Recessive 2016-06-14 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000359709 SCV000374385 likely benign Retinitis pigmentosa-deafness syndrome 2016-06-14 criteria provided, single submitter clinical testing
Invitae RCV000967226 SCV001114602 benign not provided 2019-03-06 criteria provided, single submitter clinical testing
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories RCV000036156 SCV001157838 benign not specified 2019-02-20 criteria provided, single submitter clinical testing

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