ClinVar Miner

Submissions for variant NM_000260.4(MYO7A):c.3864C>T (p.Ala1288=)

gnomAD frequency: 0.00115  dbSNP: rs144657938
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine RCV000214232 SCV000270549 likely benign not specified 2012-04-30 criteria provided, single submitter clinical testing Ala1288Ala in Exon 30 of MYO7A: This variant is not expected to have clinical si gnificance because it does not alter an amino acid residue, is not located withi n the splice consensus sequence, and has been identified in 0.3% (11/3566) of Af rican American chromosomes from a broad population by the NHLBI Exome Sequencing Project (http://evs.gs.washington.edu/EVS; dbSNP rs144657938).
GeneDx RCV000842052 SCV000984045 likely benign not provided 2020-11-18 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV000842052 SCV001044556 benign not provided 2024-12-07 criteria provided, single submitter clinical testing

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