ClinVar Miner

Submissions for variant NM_033453.4(ITPA):c.233A>G (p.Asn78Ser)

gnomAD frequency: 0.00089  dbSNP: rs150904363
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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 RCV001085247 SCV000639491 benign Inosine triphosphatase deficiency 2024-01-27 criteria provided, single submitter clinical testing
CeGaT Center for Human Genetics Tuebingen RCV000549244 SCV001153420 likely benign not provided 2018-10-01 criteria provided, single submitter clinical testing
Breakthrough Genomics, Breakthrough Genomics RCV000549244 SCV005207251 likely benign not provided criteria provided, single submitter not provided
PreventionGenetics, part of Exact Sciences RCV003960311 SCV004771607 benign ITPA-related disorder 2024-08-07 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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