ClinVar Miner

Submissions for variant NM_005334.3(HCFC1):c.4260C>G (p.Pro1420=) (rs782771916)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000945281 SCV001091273 likely benign Mental retardation 3, X-linked 2019-12-31 criteria provided, single submitter clinical testing

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