ClinVar Miner

Submissions for variant NM_001378615.1(CC2D2A):c.501G>T (p.Lys167Asn)

gnomAD frequency: 0.00026  dbSNP: rs190694237
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Total submissions: 6
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Eurofins Ntd Llc (ga) RCV000245560 SCV000232597 benign not specified 2018-02-01 criteria provided, single submitter clinical testing
PreventionGenetics, part of Exact Sciences RCV003891749 SCV000306450 benign CC2D2A-related condition 2023-03-15 criteria provided, single submitter clinical testing This variant is classified as benign based on ACMG/AMP sequence variant interpretation guidelines (Richards et al. 2015 PMID: 25741868, with internal and published modifications).
Illumina Laboratory Services, Illumina RCV000295467 SCV000447706 uncertain significance Familial aplasia of the vermis 2016-06-14 criteria provided, single submitter clinical testing
Illumina Laboratory Services, Illumina RCV000317762 SCV000447707 uncertain significance Meckel-Gruber syndrome 2016-06-14 criteria provided, single submitter clinical testing
Invitae RCV000532465 SCV000634598 benign Familial aplasia of the vermis; Meckel-Gruber syndrome 2024-01-31 criteria provided, single submitter clinical testing
GeneDx RCV003128590 SCV003805814 likely benign not provided 2020-03-25 criteria provided, single submitter clinical testing See Variant Classification Assertion Criteria.

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