Variants studied for Carney-Stratakis syndrome; Pheochromocytoma; Paragangliomas with sensorineural hearing loss; Cowden syndrome 3

Minimum submission review status:		Collection method:
Minimum conflict level: Report conflict between different conditions
Gene type: Distinguish antisense genes from sense genes
Show significances as they were submitted (without aggregation into standard terms)
		ClinVar version:

If a variant has more than one submission, it may be counted in more than one significance column. If this is the case, the total number of variants will be less than the sum of the other cells.

pathogenic	likely pathogenic	uncertain significance	likely benign	benign	total
82	15	299	175	9	580

Gene and significance breakdown #

Total genes and gene combinations: 4

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Gene or gene combination	pathogenic	likely pathogenic	uncertain significance	likely benign	benign	total
SDHD	63	13	257	142	7	482
LOC126861339, SDHD	16	2	42	33	2	95
ALG9, BTG4, C11orf52, CFAP68, CRYAB, DIXDC1, DLAT, FDXACB1, HOATZ, HSPB2, LAYN, MIR34B, MIR34BHG, MIR34C, NKAPD1, PIH1D2, POU2AF1, POU2AF3, PPP2R1B, SDHD, SIK2, TIMM8B	2	0	0	0	0	2
SDHD, TIMM8B	1	0	0	0	0	1

Submitter and significance breakdown #

Total submitters: 1

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Submitter	pathogenic	likely pathogenic	uncertain significance	likely benign	benign	total
Invitae	82	15	299	175	9	580

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