ClinVar Miner

Submissions for variant NM_152618.3(BBS12):c.250G>A (p.Gly84Arg) (rs1578489760)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Department of Medical Genetics,Sanjay Gandhi Post Graduate Institute of Medical Sciences RCV000855445 SCV000902237 likely pathogenic Bardet-Biedl syndrome 12 criteria provided, single submitter clinical testing Analysis of the data showed a novel homozygous missense sequence variant in exon 3 of BBS12 gene. This variant is classified as likely pathogenic which shows strong evidence of pathogenicity according to ACMG guidelines (Richards et al., 2015). This variant is not found in ExAC and 1000G databases. Sanger sequencing confirmed the variation in proband and parents were heterozygous for the same variation.

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