ClinVar Miner

Submissions for variant NM_004481.5(GALNT2):c.941A>C (p.Asp314Ala)

gnomAD frequency: 0.00244  dbSNP: rs78164071
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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 RCV001518588 SCV001727317 benign not provided 2024-01-27 criteria provided, single submitter clinical testing
CeGaT Center for Human Genetics Tuebingen RCV001518588 SCV004126083 likely benign not provided 2022-06-01 criteria provided, single submitter clinical testing GALNT2: BS2
Breakthrough Genomics, Breakthrough Genomics RCV001518588 SCV005284198 benign not provided criteria provided, single submitter not provided

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