ClinVar Miner

Submissions for variant NM_014865.4(NCAPD2):c.1185+8A>G

gnomAD frequency: 0.00855  dbSNP: rs141122541
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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 RCV000949559 SCV001095817 benign not provided 2019-12-31 criteria provided, single submitter clinical testing
CeGaT Center for Human Genetics Tuebingen RCV000949559 SCV004010129 benign not provided 2025-02-01 criteria provided, single submitter clinical testing NCAPD2: BP4, BS1, BS2
Breakthrough Genomics, Breakthrough Genomics RCV000949559 SCV005236874 benign not provided criteria provided, single submitter not provided

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