ClinVar Miner

Submissions for variant NM_001243177.4(ALDOA):c.951C>A (p.Pro317=)

dbSNP: rs747443135
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV002638992 SCV002976857 likely benign HNSHA due to aldolase A deficiency 2022-04-20 criteria provided, single submitter clinical testing

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