ClinVar Miner

Submissions for variant NM_014140.4(SMARCAL1):c.2142-15C>A

gnomAD frequency: 0.00009  dbSNP: rs371522763
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
Labcorp Genetics (formerly Invitae), Labcorp RCV002214739 SCV002361377 likely benign Schimke immuno-osseous dysplasia 2024-11-05 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV002214739 SCV005648207 uncertain significance Schimke immuno-osseous dysplasia 2024-04-23 criteria provided, single submitter clinical testing

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