ClinVar Miner

Submissions for variant NM_001101.5(ACTB):c.773C>T (p.Pro258Leu)

dbSNP: rs1554329281
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV001266590 SCV001444766 likely pathogenic Inborn genetic diseases 2018-06-05 criteria provided, single submitter clinical testing
Al Jalila Children’s Genomics Center, Al Jalila Childrens Speciality Hospital RCV004798850 SCV005420820 likely pathogenic Baraitser-Winter syndrome 1 2024-10-04 criteria provided, single submitter research PM2,PP3,PM6,PP2
Laboratory of Molecular Genetics (Pr. Bezieau's lab), CHU de Nantes RCV000656286 SCV000778253 pathogenic not provided 2017-04-10 no assertion criteria provided clinical testing

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