ClinVar Miner

Submissions for variant NM_001085487.3(MYSM1):c.790A>G (p.Thr264Ala)

gnomAD frequency: 0.61327  dbSNP: rs12139511
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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 RCV001521529 SCV001730889 benign not provided 2024-02-01 criteria provided, single submitter clinical testing
GeneDx RCV001521529 SCV001915745 benign not provided 2021-06-09 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV001779236 SCV002015969 benign Bone marrow failure syndrome 4 2021-09-05 criteria provided, single submitter clinical testing
Breakthrough Genomics, Breakthrough Genomics RCV001521529 SCV005287167 benign not provided criteria provided, single submitter not provided

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