ClinVar Miner

Submissions for variant NM_000260.4(MYO7A):c.5856+50G>A

gnomAD frequency: 0.56770  dbSNP: rs2276290
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Total submissions: 6
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
PreventionGenetics, part of Exact Sciences RCV000251002 SCV000303305 benign not specified criteria provided, single submitter clinical testing
GeneDx RCV000829533 SCV000971263 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 RCV001533344 SCV001749202 benign Autosomal dominant nonsyndromic hearing loss 11 2021-07-01 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV001533345 SCV001749203 benign Autosomal recessive nonsyndromic hearing loss 2 2021-07-01 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV001533346 SCV001749204 benign Usher syndrome type 1 2021-07-01 criteria provided, single submitter clinical testing
Breakthrough Genomics, Breakthrough Genomics RCV000829533 SCV005230569 benign not provided criteria provided, single submitter not provided

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