ClinVar Miner

Submissions for variant NM_014140.4(SMARCAL1):c.382C>G (p.Gln128Glu)

gnomAD frequency: 0.00001  dbSNP: rs762590281
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Fulgent Genetics, Fulgent Genetics RCV001279832 SCV002777518 uncertain significance Schimke immuno-osseous dysplasia 2022-03-16 criteria provided, single submitter clinical testing
Natera, Inc. RCV001279832 SCV001466962 uncertain significance Schimke immuno-osseous dysplasia 2020-06-29 no assertion criteria provided clinical testing

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