ClinVar Miner

Submissions for variant NM_005883.3(APC2):c.4384A>C (p.Arg1462=)

dbSNP: rs265273
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Genome-Nilou Lab RCV001544220 SCV001763216 benign Intellectual developmental disorder, autosomal recessive 74 2021-07-14 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV001544221 SCV001763217 benign Cortical dysplasia, complex, with other brain malformations 10 2021-07-14 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV002071971 SCV002380227 benign not provided 2025-02-03 criteria provided, single submitter clinical testing
Breakthrough Genomics, Breakthrough Genomics RCV002071971 SCV005314018 benign not provided criteria provided, single submitter not provided

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