ClinVar Miner

Submissions for variant NM_005333.5(HCCS):c.308_309insAGT (p.Val103dup)

dbSNP: rs2045455875
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Daryl Scott Lab, Baylor College of Medicine RCV001269290 SCV001448636 likely pathogenic Linear skin defects with multiple congenital anomalies 1 2020-11-11 criteria provided, single submitter clinical testing

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