ClinVar Miner

Submissions for variant NM_001085487.3(MYSM1):c.1275A>G (p.Pro425=)

gnomAD frequency: 0.62880  dbSNP: rs579110
Minimum review status: Collection method:
Minimum conflict level:
ClinVar version:
Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001521528 SCV001730888 benign not provided 2024-02-01 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV001779235 SCV002015968 benign Bone marrow failure syndrome 4 2021-09-05 criteria provided, single submitter clinical testing
Breakthrough Genomics, Breakthrough Genomics RCV001521528 SCV005287165 benign not provided criteria provided, single submitter not provided

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