ClinVar Miner

Submissions for variant NM_000260.4(MYO7A):c.3297C>T (p.Pro1099=) (rs367668576)

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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics RCV000323874 SCV000338571 uncertain significance not provided 2016-01-22 criteria provided, single submitter clinical testing
Laboratory for Molecular Medicine, Partners HealthCare Personalized Medicine RCV000825201 SCV000966478 likely benign not specified 2018-02-20 criteria provided, single submitter clinical testing p.Pro1099Pro in Exon 26 of MYO7A: This variant is not expected to have clinical significance because it does not alter an amino acid residue, is not located wit hin the splice consensus sequence, and has been identified in 9 /22826 of South Asian chromosomes by the Genome Aggregation Database (gnomAD, http://gnomad.broa dinstitute.org; dbSNP rs367668576).
Invitae RCV000323874 SCV001052265 likely benign not provided 2019-03-04 criteria provided, single submitter clinical testing

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