ClinVar Miner

Submissions for variant NM_015692.5(CPAMD8):c.808G>A (p.Val270Ile)

gnomAD frequency: 0.00118  dbSNP: rs201964890
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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 RCV000909213 SCV001054009 likely benign not provided 2023-05-26 criteria provided, single submitter clinical testing
CeGaT Center for Human Genetics Tuebingen RCV000909213 SCV004143317 likely benign not provided 2022-07-01 criteria provided, single submitter clinical testing CPAMD8: BP4
Breakthrough Genomics, Breakthrough Genomics RCV000909213 SCV005209630 likely benign not provided criteria provided, single submitter not provided
PreventionGenetics, part of Exact Sciences RCV003968365 SCV004777547 benign CPAMD8-related disorder 2020-02-18 no assertion criteria provided clinical testing This variant is classified as benign based on ACMG/AMP sequence variant interpretation guidelines (Richards et al. 2015 PMID: 25741868, with internal and published modifications).

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