ClinVar Miner

Submissions for variant NM_003748.4(ALDH4A1):c.1467C>G (p.Val489=)

gnomAD frequency: 0.00003  dbSNP: rs377587520
Minimum review status: Collection method:
Minimum conflict level:
ClinVar version:
Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV003609173 SCV001005405 likely benign Hyperprolinemia type 2 2023-10-23 criteria provided, single submitter clinical testing
Breakthrough Genomics, Breakthrough Genomics RCV004711319 SCV005260044 likely benign not provided criteria provided, single submitter not provided

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