ClinVar Miner

Submissions for variant NM_017909.4(RMND1):c.501C>T (p.Asn167=)

gnomAD frequency: 0.00001  dbSNP: rs374790732
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV000916440 SCV001061680 likely benign not provided 2023-08-16 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV002505355 SCV002807821 likely benign Combined oxidative phosphorylation defect type 11 2022-01-04 criteria provided, single submitter clinical testing

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