ClinVar Miner

Submissions for variant NM_015120.4(ALMS1):c.10872G>C (p.Leu3624=) (rs775336312)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Laboratory for Molecular Medicine, Partners HealthCare Personalized Medicine RCV000825114 SCV000966369 likely benign not specified 2019-01-31 criteria provided, single submitter clinical testing The p.Leu3624Leu variant in ALMS1 is classified as likely benign because it does not alter an amino acid residue, is not located within the splice consensus site, and computational splice prediction tools do not predict an impact on splicing. ACMG/AMP Criteria applied: BP4, BP7.

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