ClinVar Miner

Submissions for variant NM_000284.4(PDHA1):c.899+4C>T

gnomAD frequency: 0.00001  dbSNP: rs749903004
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV001468509 SCV001672563 likely benign Pyruvate dehydrogenase E1-alpha deficiency 2024-01-12 criteria provided, single submitter clinical testing
Ambry Genetics RCV002561295 SCV003574202 uncertain significance Inborn genetic diseases 2021-10-09 criteria provided, single submitter clinical testing The c.899+4C>T intronic alteration consists of a C to T substitution 4 nucleotides after coding exon 9 in the PDHA1 gene. Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.

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