ClinVar Miner

Submissions for variant NM_005006.7(NDUFS1):c.502T>C (p.Leu168=)

gnomAD frequency: 0.00002  dbSNP: rs759656684
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV001794840 SCV002032840 uncertain significance not provided 2021-06-11 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV001794840 SCV002948036 likely benign not provided 2022-08-10 criteria provided, single submitter clinical testing

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