ClinVar Miner

Submissions for variant NM_001085487.3(MYSM1):c.2032-8C>A

gnomAD frequency: 0.89319  dbSNP: rs232790
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001521527 SCV001730887 benign not provided 2024-02-01 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV001779234 SCV002015966 benign Bone marrow failure syndrome 4 2021-09-05 criteria provided, single submitter clinical testing
Breakthrough Genomics, Breakthrough Genomics RCV001521527 SCV005287160 benign not provided criteria provided, single submitter not provided

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