ClinVar Miner

Submissions for variant NM_014140.4(SMARCAL1):c.2532C>T (p.Pro844=)

gnomAD frequency: 0.00002  dbSNP: rs747379387
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 RCV000930416 SCV001076069 likely benign Schimke immuno-osseous dysplasia 2023-09-22 criteria provided, single submitter clinical testing
Natera, Inc. RCV000930416 SCV002076333 likely benign Schimke immuno-osseous dysplasia 2020-11-16 no assertion criteria provided clinical testing

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