ClinVar Miner

Submissions for variant NM_014140.4(SMARCAL1):c.1534G>A (p.Val512Met)

gnomAD frequency: 0.00342  dbSNP: rs35087810
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV000973816 SCV001121597 benign Schimke immuno-osseous dysplasia 2024-02-01 criteria provided, single submitter clinical testing
Genome Diagnostics Laboratory, The Hospital for Sick Children RCV002294429 SCV002587120 uncertain significance Kidney disorder 2017-02-13 criteria provided, single submitter clinical testing
Breakthrough Genomics, Breakthrough Genomics RCV004709008 SCV005243956 benign not provided criteria provided, single submitter not provided
Natera, Inc. RCV000973816 SCV001458575 benign Schimke immuno-osseous dysplasia 2020-06-26 no assertion criteria provided clinical testing

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