ClinVar Miner

Submissions for variant NM_000260.4(MYO7A):c.5944+67C>T

gnomAD frequency: 0.56521  dbSNP: rs948960
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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000833704 SCV000975468 benign not provided 2018-06-13 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.
Genome-Nilou Lab RCV001533350 SCV001749214 benign Autosomal dominant nonsyndromic hearing loss 11 2021-07-01 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV001533372 SCV001749247 benign Autosomal recessive nonsyndromic hearing loss 2 2021-07-01 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV001533373 SCV001749248 benign Usher syndrome type 1 2021-07-01 criteria provided, single submitter clinical testing
Breakthrough Genomics, Breakthrough Genomics RCV000833704 SCV005230624 benign not provided criteria provided, single submitter not provided

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