ClinVar Miner

Submissions for variant NM_020738.4(KIDINS220):c.3834C>T (p.Asn1278=)

gnomAD frequency: 0.00268  dbSNP: rs150396643
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV000896279 SCV001040363 benign not provided 2023-12-27 criteria provided, single submitter clinical testing
CeGaT Center for Human Genetics Tuebingen RCV000896279 SCV004138551 likely benign not provided 2023-04-01 criteria provided, single submitter clinical testing KIDINS220: BP4, BP7
Breakthrough Genomics, Breakthrough Genomics RCV000896279 SCV005245733 benign not provided criteria provided, single submitter not provided
PreventionGenetics, part of Exact Sciences RCV003975677 SCV004798331 benign KIDINS220-related disorder 2024-03-05 no assertion criteria provided 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).

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