ClinVar Miner

Submissions for variant NM_001001557.4(GDF6):c.429C>T (p.Leu143=)

gnomAD frequency: 0.00020  dbSNP: rs375992269
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV001496225 SCV001700919 likely benign Klippel-Feil syndrome 1, autosomal dominant; Isolated microphthalmia 4; Microphthalmia, isolated, with coloboma 6; Leber congenital amaurosis 17 2023-11-25 criteria provided, single submitter clinical testing

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