ClinVar Miner

Submissions for variant NM_000037.4(ANK1):c.4099G>A (p.Ala1367Thr)

gnomAD frequency: 0.00019  dbSNP: rs148620640
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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 RCV000901349 SCV001045715 likely benign not provided 2023-06-21 criteria provided, single submitter clinical testing
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories RCV003741233 SCV004564811 likely benign Hereditary spherocytosis type 1 2023-05-11 criteria provided, single submitter clinical testing
CeGaT Center for Human Genetics Tuebingen RCV000901349 SCV004811067 likely benign not provided 2024-03-01 criteria provided, single submitter clinical testing ANK1: BP4
Ambry Genetics RCV004629377 SCV005137300 likely benign Inborn genetic diseases 2024-05-14 criteria provided, single submitter clinical testing This alteration is classified as likely benign based on a combination of the following: seen in unaffected individuals, population frequency, intact protein function, lack of segregation with disease, co-occurrence, RNA analysis, in silico models, amino acid conservation, lack of disease association in case-control studies, and/or the mechanism of disease or impacted region is inconsistent with a known cause of pathogenicity.

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