ClinVar Miner

Submissions for variant NM_015346.4(ZFYVE26):c.1170G>A (p.Leu390=)

gnomAD frequency: 0.00001  dbSNP: rs532292359
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ClinVar version:
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 RCV000416200 SCV000493652 uncertain significance not provided 2016-07-01 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV001081348 SCV001005832 benign Spastic paraplegia 2024-01-13 criteria provided, single submitter clinical testing

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