ClinVar Miner

Submissions for variant NM_001001557.4(GDF6):c.852C>G (p.Ser284=)

gnomAD frequency: 0.00603  dbSNP: rs74498875
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Illumina Laboratory Services, Illumina RCV000404111 SCV000475540 likely benign Klippel-Feil syndrome 1, autosomal dominant 2017-04-27 criteria provided, single submitter clinical testing This variant was observed as part of a predisposition screen in an ostensibly healthy population. A literature search was performed for the gene, cDNA change, and amino acid change (where applicable). Publications were found based on this search. The evidence from the literature, in combination with allele frequency data from public databases where available, was sufficient to determine this variant is unlikely to cause disease. Therefore, this variant is classified as likely benign.
Invitae RCV000878364 SCV001021260 benign Klippel-Feil syndrome 1, autosomal dominant; Isolated microphthalmia 4; Microphthalmia, isolated, with coloboma 6; Leber congenital amaurosis 17 2024-01-30 criteria provided, single submitter clinical testing
GeneDx RCV001637002 SCV001848963 benign not provided 2020-09-17 criteria provided, single submitter clinical testing This variant is associated with the following publications: (PMID: 21070663)

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