ClinVar Miner

Submissions for variant NM_000235.4(LIPA):c.756A>C (p.Ile252=)

gnomAD frequency: 0.00170  dbSNP: rs145037134
Minimum review status: Collection method:
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ClinVar version:
Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Eurofins NTD LLC (GA) RCV000179736 SCV000232032 benign not specified 2014-12-30 criteria provided, single submitter clinical testing
Invitae RCV001081963 SCV001122514 benign Wolman disease 2021-12-17 criteria provided, single submitter clinical testing
Mayo Clinic Laboratories,Mayo Clinic RCV000675914 SCV000801641 likely benign not provided 2017-05-16 no assertion criteria provided clinical testing

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