ClinVar Miner

Submissions for variant NM_001085487.3(MYSM1):c.1572+22G>C

gnomAD frequency: 0.59703  dbSNP: rs2064370
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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 RCV001779924 SCV002015967 benign Bone marrow failure syndrome 4 2021-09-05 criteria provided, single submitter clinical testing
Breakthrough Genomics, Breakthrough Genomics RCV004714319 SCV005287163 benign not provided criteria provided, single submitter not provided

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