ClinVar Miner

Submissions for variant NM_003136.4(SRP54):c.1327+16_1327+32del

gnomAD frequency: 0.16649  dbSNP: rs369856554
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV001613948 SCV001835643 benign not provided 2021-05-16 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV002501968 SCV002807215 likely benign Shwachman-Diamond syndrome 1; Neutropenia, severe congenital, 8, autosomal dominant 2021-09-02 criteria provided, single submitter clinical testing

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