ClinVar Miner

Submissions for variant NM_015692.5(CPAMD8):c.5638A>G (p.Asn1880Asp)

gnomAD frequency: 0.00093  dbSNP: rs182109236
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 RCV000881163 SCV001024313 benign not provided 2023-08-11 criteria provided, single submitter clinical testing
CeGaT Center for Human Genetics Tuebingen RCV000881163 SCV004143300 likely benign not provided 2022-05-01 criteria provided, single submitter clinical testing CPAMD8: BP4, BS2
Breakthrough Genomics, Breakthrough Genomics RCV000881163 SCV005311488 benign not provided criteria provided, single submitter not provided

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