ClinVar Miner

Submissions for variant NM_001085487.3(MYSM1):c.148-29A>G

gnomAD frequency: 0.56587  dbSNP: rs12097333
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Genome-Nilou Lab RCV001779925 SCV002015971 benign Bone marrow failure syndrome 4 2021-09-05 criteria provided, single submitter clinical testing
Breakthrough Genomics, Breakthrough Genomics RCV004714320 SCV005287172 benign not provided criteria provided, single submitter not provided

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