ClinVar Miner

Submissions for variant NM_014225.6(PPP2R1A):c.75T>G (p.Val25=)

gnomAD frequency: 0.00021  dbSNP: rs587778622
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000910661 SCV001055541 benign not provided 2023-10-14 criteria provided, single submitter clinical testing
Mendelics RCV000991044 SCV001142148 likely benign Microcephaly-corpus callosum hypoplasia-intellectual disability-facial dysmorphism syndrome 2019-05-28 criteria provided, single submitter clinical testing
ITMI RCV000121862 SCV000086064 not provided not specified 2013-09-19 no assertion provided reference population

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