ClinVar Miner

Submissions for variant NM_014254.3(RXYLT1):c.126C>G (p.Gly42=)

gnomAD frequency: 0.00005  dbSNP: rs760389276
Minimum review status: Collection method:
Minimum conflict level:
ClinVar version:
Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000949123 SCV001095357 likely benign not provided 2024-01-12 criteria provided, single submitter clinical testing

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