ClinVar Miner

Submissions for variant NM_006012.4(CLPP):c.42A>C (p.Ser14=)

gnomAD frequency: 0.00002  dbSNP: rs935069392
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine RCV000613888 SCV000731560 likely benign not specified 2017-04-20 criteria provided, single submitter clinical testing p.Ser14Ser in exon 1 of CLPP: This variant is not expected to have clinical sign ificance because it does not alter an amino acid residue and is not located with in the splice consensus sequence.
Labcorp Genetics (formerly Invitae), Labcorp RCV002066817 SCV002480994 likely benign not provided 2020-12-26 criteria provided, single submitter clinical testing

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