ClinVar Miner

Submissions for variant NM_006947.4(SRP72):c.1640+6dup

gnomAD frequency: 0.00334  dbSNP: rs572508224
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Illumina Laboratory Services, Illumina RCV000363241 SCV000450172 likely benign Autosomal dominant aplasia and myelodysplasia 2016-06-14 criteria provided, single submitter clinical testing
Genetic Services Laboratory, University of Chicago RCV000502048 SCV000597262 benign not specified 2016-11-28 criteria provided, single submitter clinical testing
Invitae RCV000950121 SCV001096405 benign not provided 2024-01-29 criteria provided, single submitter clinical testing
GeneDx RCV000950121 SCV001787605 likely benign not provided 2023-11-11 criteria provided, single submitter clinical testing See Variant Classification Assertion Criteria.

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