ClinVar Miner

Submissions for variant NM_170665.4(ATP2A2):c.2925C>T (p.Pro975=)

dbSNP: rs147558863
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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Athena Diagnostics RCV000517237 SCV000612463 benign not specified 2016-09-14 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV000949364 SCV001095614 benign not provided 2018-06-18 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV002259983 SCV002539147 benign Acrokeratosis verruciformis of Hopf 2021-12-05 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV002259982 SCV002539148 benign Keratosis follicularis 2021-12-05 criteria provided, single submitter clinical testing
PreventionGenetics, part of Exact Sciences RCV003925534 SCV004745282 likely benign ATP2A2-related disorder 2019-10-31 no assertion criteria provided clinical testing This variant is classified as likely benign based on ACMG/AMP sequence variant interpretation guidelines (Richards et al. 2015 PMID: 25741868, with internal and published modifications).

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