ClinVar Miner

Submissions for variant NM_152618.3(BBS12):c.1A>C (p.Met1Leu) (rs750366365)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Counsyl RCV000666963 SCV000791342 likely pathogenic Bardet-Biedl syndrome 12 2017-05-08 criteria provided, single submitter clinical testing
Invitae RCV001243319 SCV001416468 uncertain significance Bardet-Biedl syndrome 2019-11-13 criteria provided, single submitter clinical testing This sequence change affects the initiator methionine of the BBS12 mRNA. The next in-frame methionine is located at codon 3. This variant is present in population databases (rs750366365, ExAC 0.06%). This variant has not been reported in the literature in individuals with BBS12-related conditions. ClinVar contains an entry for this variant (Variation ID: 551815). In summary, the available evidence is currently insufficient to determine the role of this variant in disease. Therefore, it has been classified as a Variant of Uncertain Significance.

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