ClinVar Miner

Submissions for variant NM_000382.3(ALDH3A2):c.378C>T (p.Ile126=)

gnomAD frequency: 0.00003  dbSNP: rs1555532936
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
Invitae RCV000981063 SCV001129027 likely benign not provided 2023-11-24 criteria provided, single submitter clinical testing
Natera, Inc. RCV001271637 SCV001452932 uncertain significance Sjögren-Larsson syndrome 2020-01-24 no assertion criteria provided clinical testing

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