ClinVar Miner

Submissions for variant NM_017649.5(CNNM2):c.390G>C (p.Pro130=)

gnomAD frequency: 0.00006  dbSNP: rs534061178
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV000910502 SCV001055372 likely benign not provided 2024-04-17 criteria provided, single submitter clinical testing

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