ClinVar Miner

Submissions for variant NM_015001.3(SPEN):c.1945del (p.Asp649fs)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Greenwood Genetic Center Diagnostic Laboratories, Greenwood Genetic Center RCV003314243 SCV004013414 likely pathogenic Radio-Tartaglia syndrome 2023-04-21 criteria provided, single submitter clinical testing PVS1, PM2

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