ClinVar Miner

Submissions for variant NC_000011.10:g.47338507C>T

gnomAD frequency: 0.00006  dbSNP: rs780086088
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000417634 SCV000535364 likely benign not specified 2016-12-27 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.
Labcorp Genetics (formerly Invitae), Labcorp RCV002063625 SCV002457900 likely benign Hypertrophic cardiomyopathy 2025-01-29 criteria provided, single submitter clinical testing

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