ClinVar Miner

Submissions for variant NM_002860.4(ALDH18A1):c.231C>T (p.Leu77=)

gnomAD frequency: 0.00002  dbSNP: rs1278292461
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV001577660 SCV001805076 likely benign not provided 2018-08-08 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV003771755 SCV003273203 likely benign Cutis laxa, autosomal dominant 3; Autosomal dominant spastic paraplegia type 9; de Barsy syndrome 2022-09-22 criteria provided, single submitter clinical testing

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