ClinVar Miner

Submissions for variant NM_000037.4(ANK1):c.2844C>T (p.Arg948=)

gnomAD frequency: 0.00069  dbSNP: rs7001141
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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 RCV000884822 SCV001028224 likely benign not provided 2023-09-19 criteria provided, single submitter clinical testing
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories RCV003741227 SCV004564213 likely benign Hereditary spherocytosis type 1 2023-11-16 criteria provided, single submitter clinical testing
Breakthrough Genomics, Breakthrough Genomics RCV000884822 SCV005223447 likely benign not provided criteria provided, single submitter not provided
PreventionGenetics, part of Exact Sciences RCV003948355 SCV004775362 likely benign ANK1-related disorder 2019-07-26 no assertion criteria provided clinical testing This variant is classified as likely benign based on ACMG/AMP sequence variant interpretation guidelines (Richards et al. 2015 PMID: 25741868, with internal and published modifications).

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