ClinVar Miner

Submissions for variant NM_002972.4(SBF1):c.1249A>G (p.Met417Val) (rs587776986)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
OMIM RCV000043693 SCV000071706 pathogenic Charcot-Marie-Tooth disease, type 4B3 2013-07-09 no assertion criteria provided literature only
Department of Pediatrics, Samsung Medical Center, Samsung Medical Center RCV001252745 SCV001163888 uncertain significance Microcephaly no assertion criteria provided research

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