ClinVar Miner

Submissions for variant NM_020987.5(ANK3):c.6011C>T (p.Ala2004Val)

gnomAD frequency: 0.00564  dbSNP: rs76855192
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV000901050 SCV001045400 benign not provided 2025-01-20 criteria provided, single submitter clinical testing
Breakthrough Genomics, Breakthrough Genomics RCV000901050 SCV005322806 benign not provided criteria provided, single submitter not provided
PreventionGenetics, part of Exact Sciences RCV004531023 SCV004746485 benign ANK3-related disorder 2019-05-31 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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