ClinVar Miner

Submissions for variant NM_001001557.4(GDF6):c.483G>T (p.Leu161=)

gnomAD frequency: 0.00009  dbSNP: rs200585226
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV000952672 SCV001099190 likely benign Klippel-Feil syndrome 1, autosomal dominant; Isolated microphthalmia 4; Microphthalmia, isolated, with coloboma 6; Leber congenital amaurosis 17 2025-01-27 criteria provided, single submitter clinical testing
Clinical Genetics, Academic Medical Center RCV001700520 SCV001925585 benign not specified no assertion criteria provided clinical testing
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center RCV001726381 SCV001967030 likely benign not provided no assertion criteria provided clinical testing

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