ClinVar Miner

Submissions for variant NM_022089.4(ATP13A2):c.744C>T (p.Ile248=)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
CeGaT Center for Human Genetics Tuebingen RCV003412814 SCV004123312 likely benign not provided 2023-10-01 criteria provided, single submitter clinical testing ATP13A2: PM2:Supporting, BP4, BP7
Labcorp Genetics (formerly Invitae), Labcorp RCV005216092 SCV005855627 likely benign Kufor-Rakeb syndrome; Autosomal recessive spastic paraplegia type 78 2024-10-23 criteria provided, single submitter clinical testing

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