ClinVar Miner

Submissions for variant NM_001085487.3(MYSM1):c.2262C>T (p.Leu754=)

gnomAD frequency: 0.24821  dbSNP: rs7523134
Minimum review status: Collection method:
Minimum conflict level:
ClinVar version:
Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001520829 SCV001730032 benign not provided 2024-01-31 criteria provided, single submitter clinical testing
GeneDx RCV001520829 SCV001869173 benign not provided 2020-12-28 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV003346599 SCV004049362 benign Bone marrow failure syndrome 4 2023-04-11 criteria provided, single submitter clinical testing
Breakthrough Genomics, Breakthrough Genomics RCV001520829 SCV005287157 benign not provided criteria provided, single submitter not provided

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