ClinVar Miner

Submissions for variant NM_153610.5(CMYA5):c.5174C>T (p.Ser1725Leu)

gnomAD frequency: 0.01000  dbSNP: rs17254174
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV000893133 SCV001037050 benign not provided 2018-06-05 criteria provided, single submitter clinical testing
CeGaT Center for Human Genetics Tuebingen RCV000893133 SCV004163019 likely benign not provided 2023-03-01 criteria provided, single submitter clinical testing CMYA5: BP4, BS2
Breakthrough Genomics, Breakthrough Genomics RCV000893133 SCV005302354 benign not provided criteria provided, single submitter not provided

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