ClinVar Miner

Submissions for variant NM_197968.4(ZMYM2):c.454G>C (p.Asp152His)

gnomAD frequency: 0.00321  dbSNP: rs35516773
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV000882462 SCV001025702 benign not provided 2019-12-31 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV002501394 SCV002809309 likely benign Neurodevelopmental-craniofacial syndrome with variable renal and cardiac abnormalities 2022-04-06 criteria provided, single submitter clinical testing
CeGaT Center for Human Genetics Tuebingen RCV000882462 SCV004136776 likely benign not provided 2024-01-01 criteria provided, single submitter clinical testing ZMYM2: BS2
Breakthrough Genomics, Breakthrough Genomics RCV000882462 SCV005237791 benign not provided criteria provided, single submitter not provided

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