ClinVar Miner

Submissions for variant NM_001195248.2(APTX):c.457A>G (p.Lys153Glu)

gnomAD frequency: 0.00350  dbSNP: rs34634937
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV001511828 SCV001719137 benign not provided 2024-01-18 criteria provided, single submitter clinical testing
GeneDx RCV001511828 SCV001757422 likely benign not provided 2023-07-26 criteria provided, single submitter clinical testing See Variant Classification Assertion Criteria.
Athena Diagnostics RCV001664910 SCV001880763 benign not specified 2021-05-13 criteria provided, single submitter clinical testing
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories RCV003611551 SCV004562870 likely benign Ataxia, early-onset, with oculomotor apraxia and hypoalbuminemia 2023-11-22 criteria provided, single submitter clinical testing

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