ClinVar Miner

Submissions for variant NM_003748.4(ALDH4A1):c.561C>T (p.Ser187=)

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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 RCV003609745 SCV004539512 likely benign Hyperprolinemia type 2 2022-12-04 criteria provided, single submitter clinical testing

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