ClinVar Miner

Submissions for variant NM_000260.4(MYO7A):c.5065G>A (p.Asp1689Asn)

gnomAD frequency: 0.00005  dbSNP: rs544639673
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Counsyl RCV000665822 SCV000790001 uncertain significance Autosomal recessive nonsyndromic hearing loss 2; Usher syndrome type 1 2017-03-22 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV002493086 SCV002779293 uncertain significance Autosomal dominant nonsyndromic hearing loss 11; Autosomal recessive nonsyndromic hearing loss 2; Usher syndrome type 1 2022-04-11 criteria provided, single submitter clinical testing
Invitae RCV002532047 SCV003440358 likely benign not provided 2024-01-17 criteria provided, single submitter clinical testing

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