ClinVar Miner

Submissions for variant NM_015559.3(SETBP1):c.4438G>A (p.Asp1480Asn)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Baylor Genetics RCV003333526 SCV004041178 uncertain significance Schinzel-Giedion syndrome 2023-07-10 criteria provided, single submitter clinical testing
Baylor Genetics RCV003333527 SCV004041534 uncertain significance Intellectual disability, autosomal dominant 29 2023-07-10 criteria provided, single submitter clinical testing

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