ClinVar Miner

Submissions for variant NM_018052.5(VAC14):c.612G>A (p.Ser204=)

gnomAD frequency: 0.00179  dbSNP: rs144822178
Minimum review status: Collection method:
Minimum conflict level:
ClinVar version:
Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV000973545 SCV001121307 benign not provided 2023-11-19 criteria provided, single submitter clinical testing
CeGaT Center for Human Genetics Tuebingen RCV000973545 SCV004140104 likely benign not provided 2023-05-01 criteria provided, single submitter clinical testing VAC14: BP4, BP7, BS2
Breakthrough Genomics, Breakthrough Genomics RCV000973545 SCV005248129 benign not provided criteria provided, single submitter not provided

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