ClinVar Miner

Submissions for variant NM_000701.8(ATP1A1):c.2531T>C (p.Leu844Pro)

dbSNP: rs1653241392
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Baylor Genetics RCV001331357 SCV001523382 likely pathogenic Charcot-marie-tooth disease, axonal, type 2DD 2020-10-30 criteria provided, single submitter clinical testing This variant was determined to be likely pathogenic according to ACMG Guidelines, 2015 [PMID:25741868].
Génétique des Maladies du Développement, Hospices Civils de Lyon RCV001800984 SCV002044299 likely pathogenic Intellectual disability 2021-12-29 criteria provided, single submitter clinical testing already in ClinVar. predicted deleterious, absent from gnomAD

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