ClinVar Miner

Submissions for variant NM_001101.5(ACTB):c.1101dup (p.Ser368fs)

dbSNP: rs2533845770
Minimum review status: Collection method:
Minimum conflict level:
Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
OMIM RCV003324596 SCV004030172 pathogenic ACTB-associated syndromic thrombocytopenia 2023-08-24 no assertion criteria provided literature only

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