ClinVar Miner

Submissions for variant NM_002860.4(ALDH18A1):c.1248G>A (p.Gly416=)

gnomAD frequency: 0.00009  dbSNP: rs757733068
Minimum review status: Collection method:
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ClinVar version:
Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Genome Diagnostics Laboratory, The Hospital for Sick Children RCV001848318 SCV002106148 likely benign Hereditary spastic paraplegia 2020-11-17 criteria provided, single submitter clinical testing
GeneDx RCV003156352 SCV003845771 likely benign not provided 2021-03-19 criteria provided, single submitter clinical testing See Variant Classification Assertion Criteria.

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